| Source | Code | Name | Case count | Share of cases (%) |
|---|---|---|---|---|
| OUTPAT | OUTPAT_ICD10(Q998) | Other specified chromosome abnormalities | 102 | |
| OUTPAT | OUTPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 94 | |
| OUTPAT | OUTPAT_ICD10(Q909) | Down's syndrome, unspecified | 76 | |
| OUTPAT | OUTPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 70 | |
| OUTPAT | OUTPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 62 | |
| INPAT | INPAT_ICD10(Q909) | Down's syndrome, unspecified | 56 | |
| INPAT | INPAT_ICD10(Q900) | Trisomy 21, meiotic nondisjunction | 43 | |
| OUTPAT | OUTPAT_ICD10(Q960) | Karyotype 45,X | 43 | |
| OUTPAT | OUTPAT_ICD10(Q938) | Other deletions from the autosomes | 42 | |
| OUTPAT | OUTPAT_ICD10(Q935) | Other deletions of part of a chromosome | 34 | |
| OUTPAT | OUTPAT_ICD10(Q984) | Klinefelter's syndrome, unspecified | 34 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q90) | Down's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 32 | |
| INPAT | INPAT_ICD10(Q998) | Other specified chromosome abnormalities | 31 | |
| OUTPAT | OUTPAT_ICD10(Q969) | Turner's syndrome, unspecified | 28 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q909) | Down's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 28 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q998) | Other specified chromosome abnormalities. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 27 | |
| OUTPAT | OUTPAT_ICD10(Q992) | Fragile X chromosome | 26 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 25 | |
| OUTPAT | OUTPAT_ICD10(Q963) | Mosaicism, 45,X/46,XX or XY | 24 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q984) | Klinefelter's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 22 | |
| OUTPAT | OUTPAT_ICD10(Q968) | Other variants of Turner's syndrome | 19 | |
| OUTPAT | OUTPAT_ICD10(Q985) | Karyotype 47,XYY | 19 | |
| INPAT | INPAT_ICD10(Q960) | Karyotype 45,X | 18 | |
| INPAT | INPAT_ICD10(Q980) | Klinefelter's syndrome karyotype 47,XXY | 18 | |
| OUTPAT | OUTPAT_ICD10(Q951) | Chromosome inversion in normal individual | 16 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q900) | Trisomy 21, meiotic nondisjunction. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 16 | |
| INPAT | INPAT_ICD10(Q969) | Turner's syndrome, unspecified | 14 | |
| OUTPAT | OUTPAT_ICD10(Q988) | Other specified sex chromosome abnormalities, male phenotype | 14 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q992) | Fragile X chromosome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 14 | |
| INPAT | INPAT_ICD10(Q935) | Other deletions of part of a chromosome | 13 | |
| INPAT | INPAT_ICD10(Q938) | Other deletions from the autosomes | 13 | |
| OUTPAT | OUTPAT_ICD10(Q964) | Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome | 13 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q938) | Other deletions from the autosomes. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 13 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q96) | Turner's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 13 | |
| INPAT | INPAT_ICD10(Q992) | Fragile X chromosome | 12 | |
| OUTPAT | OUTPAT_ICD10(Q970) | Karyotype 47,XXX | 12 | |
| DEATH | DEATH_ICD10(Q909) | Down's syndrome, unspecified | 11 | |
| INPAT | INPAT_ICD10(Q984) | Klinefelter's syndrome, unspecified | 11 | |
| OUTPAT | OUTPAT_ICD10(Q958) | Other balanced rearrangements and structural markers | 11 | |
| OUTPAT | OUTPAT_ICD10(Q986) | Male with structurally abnormal sex chromosome | 11 | |
| INPAT | INPAT_ICD10(Q950) | Balanced translocation and insertion in normal individual | 10 | |
| OUTPAT | OUTPAT_ICD10(Q962) | Karyotype 46,X with abnormal sex chromosome, except iso (Xq) | 10 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q935) | Other deletions of part of a chromosome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 10 | |
| OUTPAT | OUTPAT_ICD10(Q901) | Trisomy 21, mosaicism (mitotic nondisjunction) | 9 | |
| OUTPAT | OUTPAT_ICD10(Q923) | Minor partial trisomy | 9 | |
| OUTPAT | OUTPAT_ICD10(Q928) | Other specified trisomies and partial trisomies of autosomes | 9 | |
| OUTPAT | OUTPAT_ICD10(Q972) | Mosaicism, lines with various numbers of X chromosomes | 9 | |
| OUTPAT | OUTPAT_ICD10(Q978) | Other specified sex chromosome abnormalities, female phenotype | 9 | |
| OUTPAT | OUTPAT_ICD10(Q999) | Chromosomal abnormality, unspecified | 9 | |
| INPAT | INPAT_ICD10(Q963) | Mosaicism, 45,X/46,XX or XY | 8 | |
| OUTPAT | OUTPAT_ICD10(Q90) | Down's syndrome | 8 | |
| OUTPAT | OUTPAT_ICD10(Q910) | Trisomy 18, meiotic nondisjunction | 8 | |
| OUTPAT | OUTPAT_ICD10(Q930) | Whole chromosome monosomy, meiotic nondisjunction | 8 | |
| OUTPAT | OUTPAT_ICD10(Q952) | Balanced autosomal rearrangement in abnormal individual | 8 | |
| INPAT | INPAT_ICD10(Q970) | Karyotype 47,XXX | 7 | |
| INPAT | INPAT_ICD10(Q985) | Karyotype 47,XYY | 7 | |
| OUTPAT | OUTPAT_ICD10(Q902) | Trisomy 21, translocation | 7 | |
| OUTPAT | OUTPAT_ICD10(Q926) | Extra marker chromosomes | 7 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q960) | Karyotype 45,X. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 7 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q969) | Turner's syndrome, unspecified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 7 | |
| OUTPAT | OUTPAT_ICD10(Q911) | Trisomy 18, mosaicism (mitotic nondisjunction) | 6 | |
| OUTPAT | OUTPAT_ICD10(Q925) | Duplications with other complex rearrangements | 6 | |
| OUTPAT | OUTPAT_ICD10(Q96) | Turner's syndrome | 6 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q963) | Mosaicism, 45,X/46,XX or XY. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 6 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q985) | Karyotype 47,XYY. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 6 | |
| INPAT | INPAT_ICD10(Q901) | Trisomy 21, mosaicism (mitotic nondisjunction) | 5 | |
| INPAT | INPAT_ICD10(Q902) | Trisomy 21, translocation | 5 | |
| INPAT | INPAT_ICD10(Q913) | Edwards syndrome, unspecified | 5 | |
| INPAT | INPAT_ICD10(Q964) | Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome | 5 | |
| INPAT | INPAT_ICD10(Q999) | Chromosomal abnormality, unspecified | 5 | |
| OUTPAT | OUTPAT_ICD10(Q912) | Trisomy 18, translocation | 5 | |
| OUTPAT | OUTPAT_ICD10(Q981) | Klinefelter's syndrome, male with more than two X chromosomes | 5 | |
| OUTPAT | OUTPAT_ICD10(Q989) | Sex chromosome abnormality, male phenotype, unspecified | 5 | |
| OUTPAT | OUTPAT_ICD10(Q990) | Chimera 46,XX/46,XY | 5 | |
| OUTPAT | OUTPAT_ICD10(Q991) | 46,XX true hermaphrodite | 5 |